Resultados da busca - Lida Zoetekouw

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  1. 1
    Increased risk of grade IV neutropenia after administration of 5‐fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: High prevalence of the IVS14+1g>a mutation

    Increased risk of grade IV neutropenia after administration of 5‐fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: High prevalence of the IVS14+1g>a mutation por André B. P. Kuilenburg, Rutger Meinsma, Lida Zoetekouw, Albert H. Gennip

    Publicado em 2002
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  2. 2
    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype? por Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, N. G. G. M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, Claudia Carducci

    Publicado em 2014
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  3. 3
    Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

    Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 por Arjan P.M. de Brouwer, Kelly L. Williams, John A. Duley, André B. P. Kuilenburg, Sander B. Nabuurs, M. Egmont‐Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn J.G. Banning, Melissa H.S. Roeffen, Ben C.J. Hamel, Linda S. Weaving, Robert Ouvrier, Jennifer A. Donald, Ron A. Wevers, John Christodoulou, Hans van Bokhoven

    Publicado em 2007
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  4. 4
    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p1... por André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Raoul C. M. Hennekam, J.M.N. Hoovers, Christine de Die‐Smulders, Christian Weber, Andrea Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B. Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M. Estela Rubio‐Gozalbo

    Publicado em 2009
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  5. 5
    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients por André B. P. Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean‐François Benoist, Birgit Assmann, Susanne Schubert‐Bast, Georg F. Hoffmann, Marinus Durán, Maaike C. de Vries, G Kurlemann, François Eyskens, Lawrence Greed, Jörn Oliver Sass, Karl Otfried Schwab, A Sewell, John H. Walter, Andreas Hahn, Lida Zoetekouw, Antònia Ribes, Suzanne Lind, Raoul C. M. Hennekam

    Publicado em 2010
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